Linked Data
ClinVar Variation Id:
21498
ClinVar RCV Id:
RCV000020687
dbSNP Id:
rs367543009
PubMed:
PMID:20301755
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123758147C>T , CM000674.2:g.123758147C>T | GRCh38 |
| NC_000012.11:g.124242694C>T , CM000674.1:g.124242694C>T | GRCh37 |
| NC_000012.10:g.122808647C>T | NCBI36 |
| NG_012743.1:g.50830C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330342.8:c.*115C>T MANE Select | ENSP00000332247.2:n.*115C>T | |
| ENST00000675344.1:c.*1707C>T | ENSP00000501953.1:n.*1707C>T | |
| ENST00000330342.7:c.*115C>T | ENSP00000332247.2:n.*115C>T | |
| ENST00000543687.1:n.881C>T | ||
| ENST00000544833.1:c.*115C>T | ENSP00000441143.1:n.*115C>T | |
| NM_012463.3:c.*115C>T | NP_036595.2:n.*115C>T | |
| XM_005253563.1:c.*115C>T | XP_005253620.1:n.*115C>T | |
| XM_006719317.2:c.*115C>T | XP_006719380.1:n.*115C>T | |
| XM_006719318.2:c.*115C>T | XP_006719381.1:n.*115C>T | |
| XR_429088.1:n.2849C>T | ||
| XM_024448910.1:c.*115C>T | XP_024304678.1:n.*115C>T | |
| XM_024448911.1:c.*115C>T | XP_024304679.1:n.*115C>T | |
| XM_024448912.1:c.*115C>T | XP_024304680.1:n.*115C>T | |
| NM_012463.4:c.*115C>T MANE Select | NP_036595.2:n.*115C>T |